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Academic Journal

The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach.

  • Authors : Sahin B; Department of Ophthalmology, Karaman State Hospital, Karaman, Turkey.; Burton E

Subjects: Choroideremia*/Choroideremia*/Choroideremia*/diagnosis ; Choroideremia*/Choroideremia*/Choroideremia*/genetics ; Genetic Counseling*

  • Source: Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2693-2694.Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print Cited Medium: Internet ISSN: 1998-3689

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Academic Journal

Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.

Subjects: DYSGENESIS; GENETIC disorders; RETINAL diseases

  • Source: Indian Journal of Ophthalmology; Mar2023, Vol. 71 Issue 3, p935-940, 6p

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Academic Journal

Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting

Subjects: delayed diagnosis; genetic counseling; genetic testing

  • Source: Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2564-2569 (2022)

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Academic Journal

Rare eye diseases in India: A concise review of genes and genetics

Subjects: genetic analysis; genetic counseling; next-generation sequencing

  • Source: Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2232-2238 (2022)

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Academic Journal

The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach

Subjects: chm; choroideremia; genetic counseling

  • Source: Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2693-2694 (2022)

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Academic Journal

Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.

Subjects: LEBER'S hereditary optic atrophy; MITOCHONDRIAL DNA; OXIDATIVE stress

  • Source: Indian Journal of Ophthalmology; Nov2017, Vol. 65 Issue 11, p1087-1092, 6p

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Academic Journal

Genetic perspective of retinoblastoma: From present to future.

Subjects: RETINOBLASTOMA; BIOMARKERS; MOLECULES

  • Source: Indian Journal of Ophthalmology; May2016, Vol. 64 Issue 5, p332-336, 5p

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Academic Journal

Darkness leading to diagnosis.

Subjects: VISION disorders; TRAFFIC safety; NIGHT vision

  • Source: Indian Journal of Ophthalmology; Mar2022, Vol. 70 Issue 3, p727-727, 1p

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Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

Subjects: 0301 basic medicine; Adult; Male

  • Source: Indian Journal of Ophthalmology, Vol 66, Iss 2, Pp 229-232 (2018)Indian Journal of Ophthalmology

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Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy

Subjects: 0301 basic medicine; Mitochondrial DNA; congenital, hereditary, and neonatal diseases and abnormalities

  • Source: Indian Journal of OphthalmologyIndian Journal of Ophthalmology, Vol 65, Iss 11, Pp 1087-1092 (2017)

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  • 1-10 of  27 results for ""genetic counseling""